Generation of two induced pluripotent stem cell (iPSC) lines from an ALS patient with simultaneous mutations in KIF5A and MATR3 genes

David X. Medina, Ashley Boehringer, Marissa Dominick, Ileana Lorenzini, Sara Saez-Atienzar, Erik P. Pioro, Rita Sattler, Bryan Traynor, Robert Bowser*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

Fibroblasts from an amyotrophic lateral sclerosis patient with simultaneous mutations in the MATR3 gene and KIF5A gene were isolated and reprogrammed into induced pluripotent stem cells via a non-integrating Sendai viral vector. The generated iPSC clones demonstrated normal karyotype, expression of pluripotency markers, and the capacity to differentiate into three germ layers. The unique presence of two simultaneous mutations in ALS-associated genes represent a novel tool for the study of ALS disease mechanisms.

Original languageEnglish (US)
Article number102141
JournalStem Cell Research
Volume50
DOIs
StatePublished - Jan 2021
Externally publishedYes

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

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